Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs140511594
rs140511594
13 0.742 0.360 2 165941111 missense variant G/A snv 1.3E-04 1.1E-04 0.700 1.000 2 2011 2014
dbSNP: rs150742619
rs150742619
1 1.000 0.120 2 165941034 missense variant C/G snv 6.3E-05 0.700 0
dbSNP: rs777162250
rs777162250
1 1.000 0.120 2 165941053 stop gained C/T snv 8.0E-06 0.700 0